TTN
Summary: This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
Nametitin OMIM IDMIM:188840 Ensembl IDEnsembl:ENSG00000155657 HGNC IDHGNC:HGNC:12403 PHARMGKB IDPA37067 Map Location2q31.2 |
GO terms in TTN
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IPI | GO:0002020 | protease binding |
MF | IDA | GO:0004674 | protein serine/threonine kinase activity |
MF | IDA | GO:0004713 | protein tyrosine kinase activity |
MF | IDA | GO:0005509 | calcium ion binding |
MF | IPI | GO:0005515 | protein binding |
MF | IPI | GO:0005516 | calmodulin binding |
Gene expression in normal tissue: TTN
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TTN
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-109582 | Hemostasis |
reactome | R-HSA-114608 | Platelet degranulation |
reactome | R-HSA-390522 | Striated Muscle Contraction |
reactome | R-HSA-397014 | Muscle contraction |
reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
reactome | R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in TTN
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |